Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02860:Pan2'

362112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pan2

Ensembl Gene

ENSMUSG00000005682

Gene Name

PAN2 poly(A) specific ribonuclease subunit

Synonyms

Usp52, 1200014O24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02860

Quality Score

Status

Chromosome

Chromosomal Location

128139204-128157227 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 128146604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 414 (R414*)

Ref Sequence

ENSEMBL: ENSMUSP00000151874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000218315] [ENSMUST00000219721]

AlphaFold

Q8BGF7

Predicted Effect

probably null
Transcript: ENSMUST00000005825
AA Change: R432*

SMART Domains

Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: R432*

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
SCOP:d1tbga_	151	357	4e-11	SMART
Blast:WD40	225	271	4e-11	BLAST
low complexity region	412	425	N/A	INTRINSIC
Pfam:UCH	515	920	2.6e-15	PFAM
Pfam:UCH_1	516	897	9.7e-70	PFAM
low complexity region	938	949	N/A	INTRINSIC
EXOIII	972	1155	1.68e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218137

Predicted Effect

probably null
Transcript: ENSMUST00000218315
AA Change: R432*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219255

Predicted Effect

probably null
Transcript: ENSMUST00000219721
AA Change: R414*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219801

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	T	9: 90,073,915 (GRCm39)	M832L	probably benign	Het
Cars1	A	T	7: 143,140,158 (GRCm39)	D99E	probably damaging	Het
Ccdc112	A	G	18: 46,420,509 (GRCm39)	F414L	probably benign	Het
Chst15	C	T	7: 131,870,831 (GRCm39)	V235I	probably benign	Het
Dysf	G	T	6: 84,167,880 (GRCm39)		probably null	Het
Elavl2	T	C	4: 91,149,190 (GRCm39)	D174G	probably damaging	Het
Gapdhs	T	A	7: 30,429,308 (GRCm39)		probably null	Het
Gnb1l	G	A	16: 18,371,285 (GRCm39)	G259R	probably damaging	Het
Ighv9-2	T	G	12: 114,072,857 (GRCm39)	I39L	possibly damaging	Het
Kntc1	T	A	5: 123,907,936 (GRCm39)	N474K	possibly damaging	Het
Lrrc8c	T	C	5: 105,727,481 (GRCm39)		probably benign	Het
Lyn	C	T	4: 3,745,594 (GRCm39)	A131V	possibly damaging	Het
Mindy2	T	C	9: 70,563,826 (GRCm39)	E168G	probably damaging	Het
Morc2a	T	C	11: 3,611,821 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nell1	A	T	7: 50,498,233 (GRCm39)	I597F	probably damaging	Het
Nudt12	T	A	17: 59,317,430 (GRCm39)	R72S	probably benign	Het
Rb1	T	C	14: 73,443,452 (GRCm39)	R768G	probably damaging	Het
Rps6ka2	A	G	17: 7,550,255 (GRCm39)	E440G	possibly damaging	Het
Serpinb3a	C	T	1: 106,977,183 (GRCm39)		probably benign	Het
Stx8	C	A	11: 67,875,391 (GRCm39)	T72K	probably damaging	Het
Tecrl	A	G	5: 83,502,844 (GRCm39)	F2L	probably benign	Het
Tmem263	C	T	10: 84,950,416 (GRCm39)	T69I	probably damaging	Het
Ttc39b	T	C	4: 83,181,983 (GRCm39)	N49D	probably benign	Het
Ttn	A	G	2: 76,547,359 (GRCm39)	L32229P	probably damaging	Het
Zfp358	T	C	8: 3,546,074 (GRCm39)	F219L	probably damaging	Het

Other mutations in Pan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pan2	APN	10	128,148,795 (GRCm39)	nonsense	probably null
IGL02183:Pan2	APN	10	128,144,944 (GRCm39)	missense	possibly damaging	0.74
IGL02219:Pan2	APN	10	128,156,221 (GRCm39)	missense	probably benign	0.04
IGL02514:Pan2	APN	10	128,146,610 (GRCm39)	missense	possibly damaging	0.94
IGL02552:Pan2	APN	10	128,154,896 (GRCm39)	missense	probably damaging	1.00
IGL02623:Pan2	APN	10	128,148,768 (GRCm39)	missense	probably benign
IGL03104:Pan2	APN	10	128,151,532 (GRCm39)	splice site	probably benign
IGL03372:Pan2	APN	10	128,150,996 (GRCm39)	missense	probably benign	0.09
R0541:Pan2	UTSW	10	128,144,091 (GRCm39)	missense	possibly damaging	0.87
R0585:Pan2	UTSW	10	128,146,384 (GRCm39)	critical splice donor site	probably null
R1079:Pan2	UTSW	10	128,154,107 (GRCm39)	missense	probably damaging	0.99
R1650:Pan2	UTSW	10	128,153,768 (GRCm39)	missense	probably damaging	1.00
R1847:Pan2	UTSW	10	128,140,247 (GRCm39)	missense	possibly damaging	0.71
R1867:Pan2	UTSW	10	128,149,050 (GRCm39)	missense	probably damaging	1.00
R1903:Pan2	UTSW	10	128,144,237 (GRCm39)	missense	probably damaging	0.98
R1975:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R1976:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R1977:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R2136:Pan2	UTSW	10	128,149,506 (GRCm39)	missense	possibly damaging	0.95
R2162:Pan2	UTSW	10	128,140,091 (GRCm39)	missense	possibly damaging	0.90
R2512:Pan2	UTSW	10	128,140,326 (GRCm39)	missense	probably damaging	1.00
R2566:Pan2	UTSW	10	128,149,766 (GRCm39)	missense	probably damaging	1.00
R2900:Pan2	UTSW	10	128,144,211 (GRCm39)	missense	probably benign
R3957:Pan2	UTSW	10	128,151,046 (GRCm39)	missense	probably damaging	0.99
R4571:Pan2	UTSW	10	128,144,512 (GRCm39)	missense	probably benign	0.05
R5112:Pan2	UTSW	10	128,151,464 (GRCm39)	nonsense	probably null
R5120:Pan2	UTSW	10	128,150,864 (GRCm39)	critical splice donor site	probably null
R5183:Pan2	UTSW	10	128,153,838 (GRCm39)	missense	probably damaging	1.00
R5325:Pan2	UTSW	10	128,153,503 (GRCm39)	missense	possibly damaging	0.59
R5539:Pan2	UTSW	10	128,144,002 (GRCm39)	missense	probably benign	0.16
R5642:Pan2	UTSW	10	128,143,969 (GRCm39)	missense	probably benign	0.00
R5740:Pan2	UTSW	10	128,144,033 (GRCm39)	missense	probably damaging	1.00
R5822:Pan2	UTSW	10	128,156,249 (GRCm39)	missense	probably damaging	1.00
R6766:Pan2	UTSW	10	128,150,381 (GRCm39)	missense	possibly damaging	0.79
R6902:Pan2	UTSW	10	128,151,506 (GRCm39)	missense	probably benign	0.33
R6946:Pan2	UTSW	10	128,151,506 (GRCm39)	missense	probably benign	0.33
R7206:Pan2	UTSW	10	128,150,414 (GRCm39)	nonsense	probably null
R7490:Pan2	UTSW	10	128,144,309 (GRCm39)	missense	probably benign	0.00
R7715:Pan2	UTSW	10	128,153,592 (GRCm39)	missense	probably benign	0.00
R7794:Pan2	UTSW	10	128,152,396 (GRCm39)	splice site	probably null
R8286:Pan2	UTSW	10	128,154,189 (GRCm39)	missense	probably damaging	1.00
R9038:Pan2	UTSW	10	128,153,810 (GRCm39)	nonsense	probably null
R9057:Pan2	UTSW	10	128,156,141 (GRCm39)	missense	probably damaging	1.00
R9072:Pan2	UTSW	10	128,151,050 (GRCm39)	missense	probably damaging	0.98
R9073:Pan2	UTSW	10	128,151,050 (GRCm39)	missense	probably damaging	0.98
R9077:Pan2	UTSW	10	128,148,856 (GRCm39)	missense	probably damaging	1.00
R9583:Pan2	UTSW	10	128,140,135 (GRCm39)	missense	probably benign
R9787:Pan2	UTSW	10	128,144,223 (GRCm39)	missense	probably benign	0.05
RF005:Pan2	UTSW	10	128,151,404 (GRCm39)	missense	probably benign	0.00
RF024:Pan2	UTSW	10	128,151,404 (GRCm39)	missense	probably benign	0.00
Z1177:Pan2	UTSW	10	128,150,368 (GRCm39)	missense	probably damaging	0.97
Z1177:Pan2	UTSW	10	128,140,279 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-12-18